8 results on '"Kumar Dey S"'
Search Results
2. A 10-bit 80-MSPS 2.5-V 27.65-mW 0.185-mm2 segmented current steering CMOS DAC.
- Author
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Haider, S., Banerjee, S., Ghosh, A., Ravi sankar Prasad, Chatterjee, A., and Kumar Dey, S.
- Published
- 2005
- Full Text
- View/download PDF
3. Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency.
- Author
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Zhang R, Hao Y, Xu Y, Qin J, Wang Y, Kumar Dey S, Li C, Wang H, and Banerjee S
- Subjects
- Amino Acid Metabolism, Inborn Errors, Female, Humans, Infant, Newborn, Mutation, Oxidoreductases Acting on Sulfur Group Donors genetics, Pedigree, Seizures, Exome Sequencing, Infant, Newborn, Diseases, Sulfite Oxidase deficiency, Sulfite Oxidase genetics, Sulfite Oxidase metabolism
- Abstract
Background: Isolated sulfite oxidase deficiency (ISOD) is a rare type of life-threatening neurometabolic disorders characterized by neonatal intractable seizures and severe developmental delay with an autosomal recessive mode of inheritance. Germline mutation in SUOX gene causes ISOD. Till date, only 32 mutations of SUOX gene have been identified and reported to be associated with ISOD., Methods: Here, we investigated a 5-days old Chinese female child, presented with intermittent tremor or seizures of limbs, neonatal encephalopathy, subarachnoid cyst and haemorrhage, dysplasia of corpus callosum, neonatal convulsion, hyperlactatemia, severe metabolic acidosis, hyperglycemia, and hyperkalemia., Results: Whole exome sequencing identified a novel homozygous transition (c.1227G > A) in exon 6 of the SUOX gene in the proband. This novel homozygous variant leads to the formation of a truncated sulfite oxidase (p.Trp409*) of 408 amino acids. This variant causes partial loss of the dimerization domain of sulfite oxidase. Hence, it is a loss-of-function variant. Proband's father and mother is carrying this novel variant in a heterozygous state. This variant was not found in 200 ethnically matched normal healthy control individuals., Conclusions: Our study not only expanded the mutational spectrum of SUOX gene associated with ISOD, but also strongly suggested the significance of whole exome sequencing for identifying candidate genes and novel disease-causing variants., (Copyright © 2022 Elsevier B.V. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
4. Telomere Length Inheritance and Shortening in Trisomy 21.
- Author
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Bhattacharya M, Bhaumik P, Ghosh P, Majumder P, and Kumar Dey S
- Subjects
- Biomarkers, Child, Chromosomes, Human, Pair 14, Humans, Infant, Trisomy, Down Syndrome genetics, Telomere genetics
- Abstract
Objective: Trisomy 21 is a genetic disorder that shows premature aging symptoms. As an aging marker, telomere length is therefore of importance in trisomy families. Methods: We included 63 maternally originated trisomy 21 and 77 control families with infants in the first data set; 48 trisomy 21 and 60 control children in the second set; and 14 paternally originated trisomy 21 families in the third data set. We used Southern blot to measure the telomere length. Results: (1) Offsprings' telomere length increased with parents' age ( p < .0001). (2) Trisomy 21 infants had longer telomere than the controls ( p < .0001). (3) Post-birth, the telomere attrition rate was higher in cases than in controls (58 bps/year vs. 38 bps/year). Conclusion: (1) Our data supports the older parents-longer gamete telomere hypothesis. (2) Trisomy 21 patients are born with longer telomeres, (3) with advancing trisomy 21 age, the telomere shortens more quickly than euploids.
- Published
- 2020
- Full Text
- View/download PDF
5. Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.
- Author
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Zhang R, Chen S, Han P, Chen F, Kuang S, Meng Z, Liu J, Sun R, Wang Z, He X, Li Y, Guan Y, Yue Z, Li C, Kumar Dey S, Zhu Y, and Banerjee S
- Subjects
- Adult, Asian People genetics, Base Sequence, Encephalocele pathology, Female, Fetus diagnostic imaging, Homozygote, Humans, Kidney pathology, Male, Pedigree, Ultrasonography, Prenatal, Antigens, Neoplasm genetics, Cell Cycle Proteins genetics, Ciliary Motility Disorders genetics, Cytoskeletal Proteins genetics, Encephalocele genetics, Mutation genetics, Polycystic Kidney Diseases genetics, Retinitis Pigmentosa genetics, Exome Sequencing
- Abstract
Meckel syndrome (MKS) is a pre- or perinatal multisystemic ciliopathic lethal disorder with an autosomal recessive mode of inheritance. Meckel syndrome is usually manifested with meningo-occipital encephalocele, polycystic kidney dysplasia, postaxial polydactyly and hepatobiliary ductal plate malformation. Germline variants in CEP290 cause MKS4. In this study, we investigated a 35-years-old Chinese female who was 17+1 weeks pregnant. She had a history of adverse pregnancy of having foetus with multiple malformations. We performed ultrasonography and identified the foetus with occipital meningoencephalocele and enlarged cystic dysplastic kidneys. So, she decided to terminate her pregnancy and further genetic molecular analysis was performed. We identified the aborted foetus without postaxial polydactyly. Histological examination of foetal kidney showed cysts in kidney and thinning of the renal cortex with glomerular atrophy. Whole exome sequencing identified a novel homozygous variant (c.2144T>G; p.L715
* ) in exon 21 of the CEP290 in the foetus. Sanger sequencing confirmed that both the parents of the foetus were carrying this variant in a heterozygous state. This variant was not identified in two elder sisters of the foetus as well as in the 100 healthy individuals. Western blot analysis showed that this variant leads to the formation of truncated CEP290 protein with the molecular weight of 84 KD compared with the wild-type CEP290 protein of 290 KD. Hence, it is a loss-of-function variant. We also found that the mutant cilium appears longer in length than the wild-type cilium. Our present study reported the first variant of CEP290 associated with MKS4 in Chinese population., (© 2019 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd.)- Published
- 2020
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6. 18 F-FDG-induced DNA damage, chromosomal aberrations, and toxicity in V79 lung fibroblast cells.
- Author
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Mondal T, Nautiyal A, Agrawal M, Mitra D, Goel A, and Kumar Dey S
- Subjects
- Aneuploidy, Animals, Benzimidazoles, Carbocyanines, Cell Cycle radiation effects, Cell Line, Chromatids radiation effects, Chromatids ultrastructure, Chromosomes radiation effects, Chromosomes ultrastructure, Cricetulus, DNA Breaks, Double-Stranded, DNA Repair, Dose-Response Relationship, Radiation, Fibroblasts ultrastructure, Histones genetics, Karyotyping, Lung cytology, Male, Membrane Potential, Mitochondrial radiation effects, Mitosis radiation effects, Chromosome Aberrations, DNA Damage, Fibroblasts radiation effects, Fluorine Radioisotopes toxicity, Fluorodeoxyglucose F18 toxicity, Gamma Rays adverse effects, Radiopharmaceuticals toxicity
- Abstract
18 F-FDG PET/CT imaging is used in the diagnosis of diseases, including cancers. The principal photons used for imaging are 511 ke V gamma photons resulting from positron annihilation. The absorbed dose varies among body organs, depending on administered radioactivity and biological clearance. We have attempted to evaluate DNA double-strand breaks (DSB) and toxicity induced in V79 lung fibroblast cells in vitro by18 F-FDG, at doses which might result from PET procedures. Cells were irradiated by18 F-FDG at doses (14.51 and 26.86 mGy), comparable to absorbed doses received by critical organs during PET procedures. The biological endpoints measured were formation of γ-H2AX foci, mitochondrial stress, chromosomal aberrations, and cell cycle perturbation. Irradiation induced DSB (γH2AX assay), mitochondrial depolarization, and both chromosome and chromatid types of aberrations. At higher radiation doses, increased aneuploidy and reduced mitotic activity were also seen. Thus, significant biological effects were observed at the doses delivered by the18 F-FDG exposure and the effects increased with dose., (Copyright © 2019 Elsevier B.V. All rights reserved.)- Published
- 2019
- Full Text
- View/download PDF
7. Telomere length comparison between oral cells and blood cells among neonates.
- Author
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Bhattacharya M, Bhaumik P, and Kumar-Dey S
- Subjects
- Blotting, Southern, Cheek, Female, Humans, Infant, Newborn, Male, Blood Cells, Mouth Mucosa cytology, Telomere
- Abstract
Bhattacharya M, Bhaumik P, Kumar-Dey S. Telomere length comparison between oral cells and blood cells among neonates. Turk J Pediatr 2019; 61: 520-524. Telomere length, measured from blood cells, is commonly used as the standard telomere length of the whole body. The relationship between blood telomere length and oral telomere length is still unclear, especially among neonates. In this study, we measured blood telomere length as well as cheek cells telomere length to find out the overall telomere synchronization in neonates. Children aged 1 month or younger were included in this study. Blood and cheek cells were collected by heel stick method and nylon brush accordingly. Telomere length was measured by Southern blotting. A strong telomere length correlation (0.77, p < 0.001) existed between oral and blood cells which showing telomere length synchronization among different tissue types. Mean telomere length and length variability were significantly higher (t=3.73, p=0.0004) in oral cells. Longer telomere among oral cells can be justified by progenitor cell pool theory. The cause of high telomere length variability in the oral source is not clear although the presence of leukocytes among cheek cells cannot be excluded. Therefore, for telomere length measurement purpose blood should be given preference over the oral source.
- Published
- 2019
- Full Text
- View/download PDF
8. Telomere length analysis in Down syndrome birth.
- Author
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Bhaumik P, Bhattacharya M, Ghosh P, Ghosh S, and Kumar Dey S
- Subjects
- Adult, Female, Humans, Infant, Newborn, Male, Aging genetics, Aging metabolism, Aging pathology, Down Syndrome genetics, Down Syndrome metabolism, Down Syndrome pathology, Genotyping Techniques, Telomere genetics, Telomere metabolism, Telomere pathology, Telomere Homeostasis genetics
- Abstract
Human reproductive fitness depends upon telomere chemistry. Maternal age, meiotic nondisjunction error and telomere length of mother of trisomic child are someway associated. Reports exhibiting maternal inheritance of telomere length in Down syndrome child are very scanty. To investigate this, we collected peripheral blood from 170 mothers of Down syndrome child and 186 age matched mothers of euploid child with their newly born babies. Telomere length was measured by restriction digestion - southern blotting technique. Meiotic nondisjunction error was detected by STR genotyping. Subjects are classified by age (old >35 years and young ˂35 years) and by meiotic error (MI and MII). Linear regression was run to explore the age - telomere length relationship in each maternal groups. The study reveals that with age, telomere erodes in length. Old MII mothers carry the shortest (p˂0.001), control mothers have the longest telomere and MI lies in between. Babies from older mother have longer telomere (p˂0.001) moreover; telomeres are longer in Down syndrome babies than control babies (p˂0.001). To conclude, this study represents not only the relation between maternal aging and telomere length but also explore the maternal heritability of telomere length in families with Down syndrome child., (Copyright © 2017 Elsevier B.V. All rights reserved.)
- Published
- 2017
- Full Text
- View/download PDF
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